新生儿单纯大疱性表皮松解症1例(Dowling-Meara 1型)

Gahyun Hong, Minsun Choi
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引用次数: 0

摘要

大疱性表皮松解症是一种罕见的遗传性皮肤病,患者皮肤易脱落,形成水疱,伴轻度机械损伤。分为单纯型、边缘型、畸形型和混合型。这四种亚型根据基因突变的位置和遗传模式进一步分类。单纯大疱性表皮松解症(EBS)的特征是表皮层或表皮下层分离。主要由KRT5和KRT14基因突变引起。近年来,基因检测在诊断、确认亚型和遗传咨询方面变得越来越重要。EBS表型与基因型之间存在中度相关。在这里,我们报告了一例2天大的男孩,通过KRT14突变分析诊断为EBS Dowling-Meara型(EBS- dm)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn
Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14.
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